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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Identifieur interne : 002A73 ( PubMed/Curation ); précédent : 002A72; suivant : 002A74

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Auteurs : Isabelle Thiffault [États-Unis] ; Nicole I. Wolf [Pays-Bas] ; Diane Forget [Canada] ; Kether Guerrero [Canada] ; Luan T. Tran [Canada] ; Karine Choquet [Canada] ; Mathieu Lavallée-Adam [États-Unis] ; Christian Poitras [Canada] ; Bernard Brais [Canada] ; Grace Yoon [Canada] ; Laszlo Sztriha [Hongrie] ; Richard I. Webster [Australie] ; Dagmar Timmann [Allemagne] ; Bart P. Van De Warrenburg [Pays-Bas] ; Jürgen Seeger [Allemagne] ; Alíz Zimmermann [Hongrie] ; Adrienn Máté [Hongrie] ; Cyril Goizet [France] ; Eva Fung [Hong Kong] ; Marjo S. Van Der Knaap [Pays-Bas] ; Sébastien Fribourg [France] ; Adeline Vanderver [États-Unis] ; Cas Simons [Australie] ; Ryan J. Taft [États-Unis] ; John R. Yates [États-Unis] ; Benoit Coulombe [Canada] ; Geneviève Bernard [Canada]

Source :

Nature communications [ 2041-1723 ] ; 2015.

RBID : pubmed:26151409

Descripteurs français

English descriptors

KwdEn :
- DNA-Directed RNA Polymerases (genetics), DNA-Directed RNA Polymerases (metabolism), Gene Expression Regulation, Enzymologic (physiology), Genes, Recessive, Genetic Predisposition to Disease, Hereditary Central Nervous System Demyelinating Diseases (genetics), Homozygote, Humans, Mutation, RNA Polymerase III (genetics), RNA Polymerase III (metabolism).
MESH :
- chemical , genetics : DNA-Directed RNA Polymerases, RNA Polymerase III.
- chemical , metabolism : DNA-Directed RNA Polymerases, RNA Polymerase III.
- genetics : Hereditary Central Nervous System Demyelinating Diseases.
- physiology : Gene Expression Regulation, Enzymologic.
- Genes, Recessive, Genetic Predisposition to Disease, Homozygote, Humans, Mutation.

Abstract

A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here we report eight of these cases carrying recessive mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, also mutated in some Treacher Collins syndrome (TCS) cases. Using shotgun proteomics and ChIP sequencing, we demonstrate that leukodystrophy-causative mutations, but not TCS mutations, in POLR1C impair assembly and nuclear import of POLR3, but not POLR1, leading to decreased binding to POLR3 target genes. This study is the first to show that distinct mutations in a gene coding for a shared subunit of two RNA polymerases lead to selective modification of the enzymes' availability leading to two different clinical conditions and to shed some light on the pathophysiological mechanism of one of the most common hypomyelinating leukodystrophies, POLR3-related leukodystrophy.

DOI: 10.1038/ncomms8623
PubMed: 26151409

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<author><name sortKey="Lavallee Adam, Mathieu" sort="Lavallee Adam, Mathieu" uniqKey="Lavallee Adam M" first="Mathieu" last="Lavallée-Adam">Mathieu Lavallée-Adam</name>
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<author><name sortKey="Poitras, Christian" sort="Poitras, Christian" uniqKey="Poitras C" first="Christian" last="Poitras">Christian Poitras</name>
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<author><name sortKey="Brais, Bernard" sort="Brais, Bernard" uniqKey="Brais B" first="Bernard" last="Brais">Bernard Brais</name>
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<author><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name>
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<wicri:regionArea>Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726</wicri:regionArea>
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<author><name sortKey="Webster, Richard I" sort="Webster, Richard I" uniqKey="Webster R" first="Richard I" last="Webster">Richard I. Webster</name>
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<wicri:regionArea>1] T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia. [2] Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead New South Wales 2145</wicri:regionArea>
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<author><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name>
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<author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P" last="Van De Warrenburg">Bart P. Van De Warrenburg</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, PO Box 9101, Nijmegen 6500 HB</wicri:regionArea>
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<author><name sortKey="Seeger, Jurgen" sort="Seeger, Jurgen" uniqKey="Seeger J" first="Jürgen" last="Seeger">Jürgen Seeger</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics and Adolescent Medicine, Deutsche KlinikfürDiagnostik, Wiesbaden 65191</wicri:regionArea>
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<author><name sortKey="Zimmermann, Aliz" sort="Zimmermann, Aliz" uniqKey="Zimmermann A" first="Alíz" last="Zimmermann">Alíz Zimmermann</name>
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<country xml:lang="fr">Hongrie</country>
<wicri:regionArea>Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726</wicri:regionArea>
</affiliation>
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<author><name sortKey="Mate, Adrienn" sort="Mate, Adrienn" uniqKey="Mate A" first="Adrienn" last="Máté">Adrienn Máté</name>
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<author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Fung, Eva" sort="Fung, Eva" uniqKey="Fung E" first="Eva" last="Fung">Eva Fung</name>
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<country>Hong Kong</country>
<placeName><settlement type="city">Sha Tin</settlement>
</placeName>
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<author><name sortKey="Van Der Knaap, Marjo S" sort="Van Der Knaap, Marjo S" uniqKey="Van Der Knaap M" first="Marjo S" last="Van Der Knaap">Marjo S. Van Der Knaap</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam 1081 HZ, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam 1081 HZ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fribourg, Sebastien" sort="Fribourg, Sebastien" uniqKey="Fribourg S" first="Sébastien" last="Fribourg">Sébastien Fribourg</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>1] Université de Bordeaux, Institut Européen de Chimie et Biologie, ARNA Laboratory, Pessac F-33607, France. [2] Institut National de la Santé Et de la Recherche Médicale, INSERM-U869, ARNA Laboratory, Bordeaux F-33000</wicri:regionArea>
</affiliation>
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<author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1] Center for Genetic Medicine Research, Children's National, 111 Michigan Avenue Northwest, Washington, District of Columbia 20010, USA. [2] Department of Neurology, Children's National, 111 Michigan Avenue Northwest, Washington, District of Columbia 20010, USA. [3] George Washington University, School of Medicine, Washington, District of Columbia 20052</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. Taft</name>
<affiliation wicri:level="1"><nlm:affiliation>1] George Washington University, School of Medicine, Washington, District of Columbia 20052, USA. [2] Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia. [3] Departments of Integrative Systems Biology and Pediatrics, School of Medicine and Health Sciences, The George Washington University, Washington, District of Columbia 20037, USA. [4] Illumina Inc., 5200 Illumina Way, San Diego, California 92122, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1] George Washington University, School of Medicine, Washington, District of Columbia 20052, USA. [2] Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia. [3] Departments of Integrative Systems Biology and Pediatrics, School of Medicine and Health Sciences, The George Washington University, Washington, District of Columbia 20037, USA. [4] Illumina Inc., 5200 Illumina Way, San Diego, California 92122</wicri:regionArea>
</affiliation>
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<author><name sortKey="Yates, John R" sort="Yates, John R" uniqKey="Yates J" first="John R" last="Yates">John R. Yates</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Chemical Physiology, The Scripps Research Institute, 10550 North Torrey Pines Road SR302, La Jolla, California 92037</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Coulombe, Benoit" sort="Coulombe, Benoit" uniqKey="Coulombe B" first="Benoit" last="Coulombe">Benoit Coulombe</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>1] Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada. [2] Department of Biochemistry, Université de Montréal, Pavillon Roger-Gaudry, CP 6128, Succ Centre-Ville, Montreal, Québec H3C 3J7</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.</title>
<author><name sortKey="Thiffault, Isabelle" sort="Thiffault, Isabelle" uniqKey="Thiffault I" first="Isabelle" last="Thiffault">Isabelle Thiffault</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1] Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada. [2] Service de Génétique, Centre Hospitalier Universitaire Sainte-Justine, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Quebec H3T1C5, Canada. [3] Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Suite 421, Kansas City, Missouri 64108</wicri:regionArea>
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<author><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I" last="Wolf">Nicole I. Wolf</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam 1081 HZ</wicri:regionArea>
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<author><name sortKey="Forget, Diane" sort="Forget, Diane" uniqKey="Forget D" first="Diane" last="Forget">Diane Forget</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7</wicri:regionArea>
</affiliation>
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<author><name sortKey="Guerrero, Kether" sort="Guerrero, Kether" uniqKey="Guerrero K" first="Kether" last="Guerrero">Kether Guerrero</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tran, Luan T" sort="Tran, Luan T" uniqKey="Tran L" first="Luan T" last="Tran">Luan T. Tran</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Choquet, Karine" sort="Choquet, Karine" uniqKey="Choquet K" first="Karine" last="Choquet">Karine Choquet</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurogenetics of Motion Laboratory, Montreal Neurological Institute, 3801 University Street, McGill University, Montreal, Quebec H3A 2B4, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Neurogenetics of Motion Laboratory, Montreal Neurological Institute, 3801 University Street, McGill University, Montreal, Quebec H3A 2B4</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lavallee Adam, Mathieu" sort="Lavallee Adam, Mathieu" uniqKey="Lavallee Adam M" first="Mathieu" last="Lavallée-Adam">Mathieu Lavallée-Adam</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Chemical Physiology, The Scripps Research Institute, 10550 North Torrey Pines Road SR302, La Jolla, California 92037, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Chemical Physiology, The Scripps Research Institute, 10550 North Torrey Pines Road SR302, La Jolla, California 92037</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Poitras, Christian" sort="Poitras, Christian" uniqKey="Poitras C" first="Christian" last="Poitras">Christian Poitras</name>
<affiliation wicri:level="1"><nlm:affiliation>Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brais, Bernard" sort="Brais, Bernard" uniqKey="Brais B" first="Bernard" last="Brais">Bernard Brais</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurogenetics of Motion Laboratory, Montreal Neurological Institute, 3801 University Street, McGill University, Montreal, Quebec H3A 2B4, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Neurogenetics of Motion Laboratory, Montreal Neurological Institute, 3801 University Street, McGill University, Montreal, Quebec H3A 2B4</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yoon, Grace" sort="Yoon, Grace" uniqKey="Yoon G" first="Grace" last="Yoon">Grace Yoon</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Neurology and Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology and Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sztriha, Laszlo" sort="Sztriha, Laszlo" uniqKey="Sztriha L" first="Laszlo" last="Sztriha">Laszlo Sztriha</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726, Hungary.</nlm:affiliation>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea>Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Webster, Richard I" sort="Webster, Richard I" uniqKey="Webster R" first="Richard I" last="Webster">Richard I. Webster</name>
<affiliation wicri:level="1"><nlm:affiliation>1] T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia. [2] Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead New South Wales 2145, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>1] T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia. [2] Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead New South Wales 2145</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Clinic Essen, University of Duisburg-Essen, Hufelandstrasse 55, 45147 Essen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Clinic Essen, University of Duisburg-Essen, Hufelandstrasse 55, 45147 Essen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P" last="Van De Warrenburg">Bart P. Van De Warrenburg</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, PO Box 9101, Nijmegen 6500 HB, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, PO Box 9101, Nijmegen 6500 HB</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Seeger, Jurgen" sort="Seeger, Jurgen" uniqKey="Seeger J" first="Jürgen" last="Seeger">Jürgen Seeger</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, Deutsche KlinikfürDiagnostik, Wiesbaden 65191, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics and Adolescent Medicine, Deutsche KlinikfürDiagnostik, Wiesbaden 65191</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zimmermann, Aliz" sort="Zimmermann, Aliz" uniqKey="Zimmermann A" first="Alíz" last="Zimmermann">Alíz Zimmermann</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726, Hungary.</nlm:affiliation>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea>Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mate, Adrienn" sort="Mate, Adrienn" uniqKey="Mate A" first="Adrienn" last="Máté">Adrienn Máté</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurosurgery, Faculty of Medicine, University of Szeged, 6 Semmelweis Street, Szeged H-6725, Hungary.</nlm:affiliation>
<country xml:lang="fr">Hongrie</country>
<wicri:regionArea>Department of Neurosurgery, Faculty of Medicine, University of Szeged, 6 Semmelweis Street, Szeged H-6725</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique, Hôpital Pellegrin, CHU Bordeaux and University Bordeaux, Laboratoire MRGM (EA4576), Bordeaux 33076, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Hôpital Pellegrin, CHU Bordeaux and University Bordeaux, Laboratoire MRGM (EA4576), Bordeaux 33076</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fung, Eva" sort="Fung, Eva" uniqKey="Fung E" first="Eva" last="Fung">Eva Fung</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, SAR China.</nlm:affiliation>
<orgName type="university">Université chinoise de Hong Kong</orgName>
<country>Hong Kong</country>
<placeName><settlement type="city">Sha Tin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Der Knaap, Marjo S" sort="Van Der Knaap, Marjo S" uniqKey="Van Der Knaap M" first="Marjo S" last="Van Der Knaap">Marjo S. Van Der Knaap</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam 1081 HZ, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam 1081 HZ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fribourg, Sebastien" sort="Fribourg, Sebastien" uniqKey="Fribourg S" first="Sébastien" last="Fribourg">Sébastien Fribourg</name>
<affiliation wicri:level="1"><nlm:affiliation>1] Université de Bordeaux, Institut Européen de Chimie et Biologie, ARNA Laboratory, Pessac F-33607, France. [2] Institut National de la Santé Et de la Recherche Médicale, INSERM-U869, ARNA Laboratory, Bordeaux F-33000, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>1] Université de Bordeaux, Institut Européen de Chimie et Biologie, ARNA Laboratory, Pessac F-33607, France. [2] Institut National de la Santé Et de la Recherche Médicale, INSERM-U869, ARNA Laboratory, Bordeaux F-33000</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name>
<affiliation wicri:level="1"><nlm:affiliation>1] Center for Genetic Medicine Research, Children's National, 111 Michigan Avenue Northwest, Washington, District of Columbia 20010, USA. [2] Department of Neurology, Children's National, 111 Michigan Avenue Northwest, Washington, District of Columbia 20010, USA. [3] George Washington University, School of Medicine, Washington, District of Columbia 20052, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1] Center for Genetic Medicine Research, Children's National, 111 Michigan Avenue Northwest, Washington, District of Columbia 20010, USA. [2] Department of Neurology, Children's National, 111 Michigan Avenue Northwest, Washington, District of Columbia 20010, USA. [3] George Washington University, School of Medicine, Washington, District of Columbia 20052</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. Taft</name>
<affiliation wicri:level="1"><nlm:affiliation>1] George Washington University, School of Medicine, Washington, District of Columbia 20052, USA. [2] Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia. [3] Departments of Integrative Systems Biology and Pediatrics, School of Medicine and Health Sciences, The George Washington University, Washington, District of Columbia 20037, USA. [4] Illumina Inc., 5200 Illumina Way, San Diego, California 92122, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>1] George Washington University, School of Medicine, Washington, District of Columbia 20052, USA. [2] Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia. [3] Departments of Integrative Systems Biology and Pediatrics, School of Medicine and Health Sciences, The George Washington University, Washington, District of Columbia 20037, USA. [4] Illumina Inc., 5200 Illumina Way, San Diego, California 92122</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yates, John R" sort="Yates, John R" uniqKey="Yates J" first="John R" last="Yates">John R. Yates</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Chemical Physiology, The Scripps Research Institute, 10550 North Torrey Pines Road SR302, La Jolla, California 92037, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Chemical Physiology, The Scripps Research Institute, 10550 North Torrey Pines Road SR302, La Jolla, California 92037</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Coulombe, Benoit" sort="Coulombe, Benoit" uniqKey="Coulombe B" first="Benoit" last="Coulombe">Benoit Coulombe</name>
<affiliation wicri:level="1"><nlm:affiliation>1] Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada. [2] Department of Biochemistry, Université de Montréal, Pavillon Roger-Gaudry, CP 6128, Succ Centre-Ville, Montreal, Québec H3C 3J7, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>1] Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada. [2] Department of Biochemistry, Université de Montréal, Pavillon Roger-Gaudry, CP 6128, Succ Centre-Ville, Montreal, Québec H3C 3J7</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature communications</title>
<idno type="eISSN">2041-1723</idno>
<imprint><date when="2015" type="published">2015</date>
</imprint>
</series>
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<term>DNA-Directed RNA Polymerases (metabolism)</term>
<term>Gene Expression Regulation, Enzymologic (physiology)</term>
<term>Genes, Recessive</term>
<term>Genetic Predisposition to Disease</term>
<term>Hereditary Central Nervous System Demyelinating Diseases (genetics)</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Mutation</term>
<term>RNA Polymerase III (genetics)</term>
<term>RNA Polymerase III (metabolism)</term>
</keywords>
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<term>DNA-directed RNA polymerases (métabolisme)</term>
<term>Gènes récessifs</term>
<term>Homozygote</term>
<term>Humains</term>
<term>Maladies démyélinisantes héréditaires du système nerveux central (génétique)</term>
<term>Mutation</term>
<term>Prédisposition génétique à une maladie</term>
<term>RNA polymerase III (génétique)</term>
<term>RNA polymerase III (métabolisme)</term>
<term>Régulation de l'expression des gènes codant pour des enzymes (physiologie)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Directed RNA Polymerases</term>
<term>RNA Polymerase III</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA-Directed RNA Polymerases</term>
<term>RNA Polymerase III</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hereditary Central Nervous System Demyelinating Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>DNA-directed RNA polymerases</term>
<term>Maladies démyélinisantes héréditaires du système nerveux central</term>
<term>RNA polymerase III</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>DNA-directed RNA polymerases</term>
<term>RNA polymerase III</term>
</keywords>
<keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Régulation de l'expression des gènes codant pour des enzymes</term>
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<term>Humans</term>
<term>Mutation</term>
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<term>Homozygote</term>
<term>Humains</term>
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<front><div type="abstract" xml:lang="en">A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here we report eight of these cases carrying recessive mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, also mutated in some Treacher Collins syndrome (TCS) cases. Using shotgun proteomics and ChIP sequencing, we demonstrate that leukodystrophy-causative mutations, but not TCS mutations, in POLR1C impair assembly and nuclear import of POLR3, but not POLR1, leading to decreased binding to POLR3 target genes. This study is the first to show that distinct mutations in a gene coding for a shared subunit of two RNA polymerases lead to selective modification of the enzymes' availability leading to two different clinical conditions and to shed some light on the pathophysiological mechanism of one of the most common hypomyelinating leukodystrophies, POLR3-related leukodystrophy.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26151409</PMID>
<DateCreated><Year>2015</Year>
<Month>07</Month>
<Day>08</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>04</Month>
<Day>18</Day>
</DateCompleted>
<DateRevised><Year>2016</Year>
<Month>12</Month>
<Day>03</Day>
</DateRevised>
<Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">2041-1723</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>6</Volume>
<PubDate><Year>2015</Year>
<Month>Jul</Month>
<Day>07</Day>
</PubDate>
</JournalIssue>
<Title>Nature communications</Title>
<ISOAbbreviation>Nat Commun</ISOAbbreviation>
</Journal>
<ArticleTitle>Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.</ArticleTitle>
<Pagination><MedlinePgn>7623</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1038/ncomms8623</ELocationID>
<Abstract><AbstractText>A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here we report eight of these cases carrying recessive mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, also mutated in some Treacher Collins syndrome (TCS) cases. Using shotgun proteomics and ChIP sequencing, we demonstrate that leukodystrophy-causative mutations, but not TCS mutations, in POLR1C impair assembly and nuclear import of POLR3, but not POLR1, leading to decreased binding to POLR3 target genes. This study is the first to show that distinct mutations in a gene coding for a shared subunit of two RNA polymerases lead to selective modification of the enzymes' availability leading to two different clinical conditions and to shed some light on the pathophysiological mechanism of one of the most common hypomyelinating leukodystrophies, POLR3-related leukodystrophy.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Thiffault</LastName>
<ForeName>Isabelle</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>1] Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada. [2] Service de Génétique, Centre Hospitalier Universitaire Sainte-Justine, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Quebec H3T1C5, Canada. [3] Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Suite 421, Kansas City, Missouri 64108, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wolf</LastName>
<ForeName>Nicole I</ForeName>
<Initials>NI</Initials>
<Identifier Source="ORCID">0000000317210728</Identifier>
<AffiliationInfo><Affiliation>Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam 1081 HZ, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Forget</LastName>
<ForeName>Diane</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Guerrero</LastName>
<ForeName>Kether</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Tran</LastName>
<ForeName>Luan T</ForeName>
<Initials>LT</Initials>
<AffiliationInfo><Affiliation>Department of Neurology and Neurosurgery, McGill University, Department of Medical Genetics, Montreal Children's Hospital, Research Institute of the McGill University Health Center, 1001 boul Décarie, Montreal, Quebec H4A 3J1, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Choquet</LastName>
<ForeName>Karine</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Neurogenetics of Motion Laboratory, Montreal Neurological Institute, 3801 University Street, McGill University, Montreal, Quebec H3A 2B4, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lavallée-Adam</LastName>
<ForeName>Mathieu</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Chemical Physiology, The Scripps Research Institute, 10550 North Torrey Pines Road SR302, La Jolla, California 92037, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Poitras</LastName>
<ForeName>Christian</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Translational Proteomics Laboratory, Institut de recherches cliniques de Montréal (IRCM), 110 avenue des Pins ouest, Montréal, Québec H2W 1R7, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brais</LastName>
<ForeName>Bernard</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Neurogenetics of Motion Laboratory, Montreal Neurological Institute, 3801 University Street, McGill University, Montreal, Quebec H3A 2B4, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yoon</LastName>
<ForeName>Grace</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Division of Neurology and Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sztriha</LastName>
<ForeName>Laszlo</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt. 35-37, Szeged H-6726, Hungary.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Webster</LastName>
<ForeName>Richard I</ForeName>
<Initials>RI</Initials>
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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

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